#ScienceSaturday: March 28, 2020

#ScienceSaturday posts share relevant and exciting scientific news with the KAND community. This project is a collaboration between KIF1A.ORG’s Research Engagement Team Leader Alejandro Doval, President Kathryn Atchley and Science Communication Director Dr. Dominique Lessard. Send news suggestions to our team at impact@kif1a.org.

Save the Date for “The
Gene”

The KIF1A.ORG community
and our mission to find a cure for KIF1A Associated Neurological Disorder will
be highlighted in The Gene: An Intimate History on PBS. This Ken Burns
documentary weaves together science, history and personal stories for a
historical biography of the human genome, while also exploring breakthroughs
for diagnosis and treatment of genetic diseases, and the complex ethical
questions they raise.

The Gene: An Intimate HistoryTune in or stream Tuesday, April 7 at 8/7c on PBS

Rare Disease News

Evolved Base Editor
Surpasses Predecessors with High Efficiency and Versatility

The discovery of
genomic base editors, like the commonly referenced CRISPR technology,
introduced a new type of powerful gene editing machinery to the scientific and
therapeutic world. To improve and expand the capabilities of these
technologies, researchers are continuously searching for ways to make gene
editing machines more efficient. This article summarizes a recent advance
regarding a type of gene editing machinery (ABEs), led by Dr. David Liu’s team
at the Broad Institute of MIT and Harvard. Specifically, this team has
increased the gene editing efficiency and specificity of ABEs, surpassing the
editing capabilities of previous ABE models.

“…this study and many additional innovations in base editing from other labs around the world demonstrates that the base editing field continues to tailor these molecular machines to offer increasingly powerful and therapeutically relevant properties.”

AveXis’ Zolgensma gene therapy yields desired results in
SMA trials

A gene therapy known as Zolgensma has yielded encouraging results for patients with spinal muscular atrophy (SMA). This treatment is currently FDA-approved for patients as young as under two years of age that meet specific diagnostic criteria. “According to Novartis, interim data from the SPR1NT trial showed presymptomatic babies with spinal muscular atrophy treated with the gene therapy soon after their birth could achieve age-appropriate motor milestones.”

Gene therapy
shows promise for a disease that steals young men’s vision

X-linked
retinitis pigmentosa (X-linked RP) is a genetic disease, caused by a mutation
on the X chromosome, that leads to progressive vision loss and blindness in
young men. In an attempt to improve the visual fields of X-linked RP patients,
Dr. Robert MacLaren’s group at the University of Oxford has used gene therapy
guided by an adeno-associated virus (AAV) to introduce a replacement of the
defective gene. This is the first retinal gene therapy clinical trial for
X-linked RP, the early results of which are described in this article.